Variants with conflicting interpretations "likely pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "uncertain significance" from any submitter

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:		Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)	rs202060864	0.00028
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)	rs190706099	0.00006
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp)	rs199681253
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)	rs1690574155
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser)	rs2138904379
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)	rs1202957297
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)	rs141612135
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys)	rs1554627218
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp)	rs866273473
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)	rs1554121206
NM_006914.4(RORB):c.1163T>A (p.Ile388Asn)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.